Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50939
Gene name Gene Name - the full gene name approved by the HGNC.
Interphotoreceptor matrix proteoglycan 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IMPG2
Synonyms (NCBI Gene) Gene synonyms aliases
IPM200, RP56, SPACRCAN, VMD5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP56, VMD5
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photor
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs116450347 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Missense variant, coding sequence variant
rs199867882 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs201893545 A>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs267606874 G>C Pathogenic Coding sequence variant, stop gained
rs267606875 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT504928 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT504927 hsa-miR-586 HITS-CLIP 21572407
MIRT504926 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT504925 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT504928 hsa-miR-5011-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent TAS 10702256
GO:0005540 Function Hyaluronic acid binding IBA 21873635
GO:0005540 Function Hyaluronic acid binding TAS 10702256
GO:0007601 Process Visual perception TAS 10702256
GO:0008201 Function Heparin binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607056 18362 ENSG00000081148
Protein
UniProt ID Q9BZV3
Protein name Interphotoreceptor matrix proteoglycan 2 (Interphotoreceptor matrix proteoglycan of 200 kDa) (IPM 200) (Sialoprotein associated with cones and rods proteoglycan) (Spacrcan)
Protein function Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin. {ECO:0000269
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01390 SEA 241 338 SEA domain Family
PF01390 SEA 899 999 SEA domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina (at protein level) (PubMed:10702256, PubMed:29777959). Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones (at protein level) (PubMed:10542133, PubMed:29777959). IP
Sequence
MIMFPLFGKISLGILIFVLIEGDFPSLTAQTYLSIEEIQEPKSAVSFLLPEESTDLSLAT
KKKQPLDRRETERQWLIRRRRSILFPNGVKICPDESVAEAVANHVKYFKVRVCQEAVWEA
FRTFWDRLPGREEYHYWMNLCEDGVTSIFEMGTNFSESVEHRSLIMKKLTYAKETVSSSE
LSSPVPVGDTSTLGDTTLSVPHPEVDAYEGASESSLERPEESISNEIENVIEEATKPAGE
QIAEFSIHLLGKQYREELQDSSSFHHQHLEEEFISEVENAFTGLPGYKEIRVLEFRSPKE
NDSGVDVYYAVTFNGEAISNTTWDLISLHSNKVENHGL
VELDDKPTVVYTISNFRDYIAE
TLQQNFLLGNSSLNPDPDSLQLINVRGVLRHQTEDLVWNTQSSSLQATPSSILDNTFQAA
WPSADESITSSIPPLDFSSGPPSATGRELWSESPLGDLVSTHKLAFPSKMGLSSSPEVLE
VSSLTLHSVTPAVLQTGLPVASEERTSGSHLVEDGLANVEESEDFLSIDSLPSSSFTQPV
PKETIPSMEDSDVSLTSSPYLTSSIPFGLDSLTSKVKDQLKVSPFLPDASMEKELIFDGG
LGSGSGQKVDLITWPWSETSSEKSAEPLSKPWLEDDDSLLPAEIEDKKLVLVDKMDSTDQ
ISKHSKYEHDDRSTHFPEEEPLSGPAVPIFADTAAESASLTLPKHISEVPGVDDYSVTKA
PLILTSVAISASTDKSDQADAILREDMEQITESSNYEWFDSEVSMVKPDMQTLWTILPES
ERVWTRTSSLEKLSRDILASTPQSADRLWLSVTQSTKLPPTTISTLLEDEVIMGVQDISL
ELDRIGTDYYQPEQVQEQNGKVGSYVEMSTSVHSTEMVSVAWPTEGGDDLSYTQTSGALV
VFFSLRVTNMMFSEDLFNKNSLEYKALEQRFLELLVPYLQSNLTGFQNLEILNFRNGSIV
VNSRMKFANSVPPNVNNAVYMILEDFCTTAYNTMNLAID
KYSLDVESGDEANPCKFQACN
EFSECLVNPWSGEAKCRCFPGYLSVEERPCQSLCDLQPDFCLNDGKCDIMPGHGAICRCR
VGENWWYRGKHCEEFVSEPVIIGITIASVVGLLVIFSAIIYFFIRTLQAHHDRSERESPF
SGSSRQPDSLSSIENAVKYNPVYESHRAGCEKYEGPYPQHPFYSSASGDVIGGLSREEIR
QMYESSELSREEIQERMRVLELYANDPEFAAFVREQQVEEV
Sequence length 1241
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Choroideremia Choroideremia rs132630263, rs132630264, rs132630265, rs587776746, rs132630267, rs132630266, rs397514603, rs386833676, rs281865373, rs527236048, rs786204761, rs886041179, rs886041177, rs776256380, rs1057516265
View all (20 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Foveomacular vitelliform dystrophy Adult-onset foveomacular vitelliform dystrophy rs61755801, rs61748430, rs1554269071, rs1562434117
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease 28067908 ClinVar
Vitelliform Macular Dystrophy vitelliform macular dystrophy 5 GenCC
Retinal Dystrophy inherited retinal dystrophy GenCC
Retinitis Pigmentosa retinitis pigmentosa, retinitis pigmentosa 56 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Hearing Loss Bilateral Associate 35608844
Retinal Diseases Associate 24876279
Retinal Dystrophies Associate 37127645, 39596324
Retinitis Pigmentosa Associate 24339724, 24876279
Sveinsson Chorioretinal Atrophy Associate 24876279
Vision Disorders Associate 24876279, 35608844
Vitelliform Macular Dystrophy Associate 35608844, 35900727